Detalhe da pesquisa
1.
SARS-CoV-2 molecular epidemiology in Slovenia, January to September 2021.
Euro Surveill
; 28(8)2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36820641
2.
Contribution of Retrotransposons to the Pathogenesis of Type 1 Diabetes and Challenges in Analysis Methods.
Int J Mol Sci
; 24(4)2023 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36834511
3.
Universal screening for familial hypercholesterolemia in 2 populations.
Genet Med
; 24(10): 2103-2111, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913489
4.
Rezidivierende fulminante Myokarditis mit wiederholtem Einsatz der ECMO bei einem Kind.
Klin Padiatr
; 231(2): 80-86, 2019 Mar.
Artigo
em Alemão
| MEDLINE | ID: mdl-30870874
5.
DEPTOR promoter genetic variants and insulin resistance in obese children and adolescents.
Pediatr Diabetes
; 18(2): 152-158, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26871578
6.
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
Eur Arch Otorhinolaryngol
; 273(5): 1151-4, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26036852
7.
Weak association of glyoxalase 1 (GLO1) variants with autism spectrum disorder.
Eur Child Adolesc Psychiatry
; 24(1): 75-82, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24671236
8.
PAX5 Alterations in a Consecutive Childhood B-Cell Acute Lymphoblastic Leukemia Cohort Treated Using the ALL IC-BFM 2009 Protocol.
Cancers (Basel)
; 16(6)2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38539499
9.
Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation.
Eur J Pediatr
; 172(8): 1125-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23229189
10.
Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review.
Front Med (Lausanne)
; 10: 1106441, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37384046
11.
Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review.
Mol Genet Metab Rep
; 36: 100986, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37670898
12.
Integrative Transcriptomic Profiling of the Wilms Tumor.
Cancers (Basel)
; 15(15)2023 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37568662
13.
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
Mol Genet Metab
; 106(2): 142-8, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22513348
14.
An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature
Genes (Basel)
; 13(7)2022 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35886055
15.
A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees.
Genes (Basel)
; 13(4)2022 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456463
16.
Pathogenesis of Type 1 Diabetes: Established Facts and New Insights.
Genes (Basel)
; 13(4)2022 04 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456512
17.
The Role of Epigenetic Modifications in Late Complications in Type 1 Diabetes.
Genes (Basel)
; 13(4)2022 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456511
18.
Heterozygous NPR2 Variants in Idiopathic Short Stature.
Genes (Basel)
; 13(6)2022 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35741827
19.
A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review.
Front Genet
; 13: 983283, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36051701
20.
Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program.
Front Genet
; 13: 936121, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35903350